A Family with Hereditary Spastic Paraparesis and Epilepsy

Abstract

Summary: Purpose:We describe a family with hereditary spastic paraparesis (HSP) in which 4 of 6 affected members also have epilepsy.Methods: All family members were examined by 2 neurologists. Four affected and 3 unaffected family members had EEG recordings. Four affected members were investigated for other causes of spastic paraparesis and epilepsy.Results: Epileptic symptoms varied among family members: 1 had complex partial seizures, another had focal myoclonic epilepsy, and 2 had simple partial seizures secondarily generalized. All 4 had clinical or EEG evidence to support a focal origin for the epilepsy, and 2 had photoparoxysal responses on EEG. Symptoms were more severe and occurred earlier in the younger generation, suggesting genetic anticipation in this family. The onset of epilepsy developed simultaneously with, or G18 years before, onset of gait disturbance. Three unaffected family members had normal EEGs.Conclusions: The association of HSP and epilepsy should no longer be assumed to be fortuitous.

Clinical Spectrum of Hereditary Spastic Paraplegia in Children : A Study of 74 Cases = الطيف السريري للشلل السفلي التشنجي الوراثي في الأطفال : دراسة 74 حالة

“…9,10 Different types of seizures have been associated with HSP. 5,21 In the current study, tonic-clonic seizures were found in 7 children, myoclonic in 4, and partial in two. Cerebellar features may be seen at the onset of the disease or later on after progression of the disease.…”

“…21 Epilepsy was noted in 13 (17.5%) of our patients; 3 of them had a thin corpus callosum. 9,10 Different types of seizures have been associated with HSP.…”

“…22 In the two previous studies from Oman on 16 children, 9 children with complicated HSP were genetically mapped to a new locus on 8p12-p11. 21 and 7 children with the SPG35 gene were mapped to 16q21-q23. 1,9,10 In the rest of the children, genetic studies are expected to be undertaken in the future.…”

A large family with hereditary spastic paraparesis due to a frame shift mutation of the spastin (SPG4) gene: association with multiple sclerosis in two affected siblings and epilepsy in other affected family members

“…It is estimated that around 40% of autosomal dominant HSP kindreds are linked to a locus on chromosome 2p (SPG4) 12 There is considerable phenotypic heterogeneity within pedigrees linked to the SPG4 locus, with evidence of epilepsy, cognitive impairment, and neurological abnormalities from birth in some pedigrees 34 Recently, mutations have been identified in the spastin gene in families with SPG4 linked HSP 5-8…”

Hereditary spastic paraplegia: mitochondrial metalloproteases of yeast

“…The age of onset and severity of the disorder vary even among individuals from the same family (Harding 1981;Durr et al 1994). Many patients exhibit "complicated" forms of HSP, which are characterized by the presence of additional neurological and non-neurological symptoms such as mental retardation, peripheral neuropathy, amyotrophy, ataxia, retinitis pigmentosa, optic atrophy, deafness and ichthyosis (Bonneau et al 1993;Gigli et al 1993;Lizcano-Gil et al 1997;Webb et al 1997). Although some of these HSPs segregate in families, it remains to be seen whether or not complicated forms of HSP are genetically distinct, or whether variant forms are pure HSP.…”